[Federal Register Volume 89, Number 44 (Tuesday, March 5, 2024)] [Notices] [Pages 15876-15878] From the Federal Register Online via the Government Publishing Office [www.gpo.gov] [FR Doc No: 2024-04618] ----------------------------------------------------------------------- DEPARTMENT OF HEALTH AND HUMAN SERVICES Health Resources and Services Administration Request for Information: Nomination and Evidence-Based Review Process of the Advisory Committee on Heritable Disorders in Newborns and Children AGENCY: Health Resources and Services Administration (HRSA), Department of Health and Human Services. ACTION: Notice of request for public comment. ----------------------------------------------------------------------- SUMMARY: At the request of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC or [[Page 15877]] Committee), HRSA is requesting input from the public on the process used by the Committee for nomination and evidence-based review of conditions that are considered for inclusion in the Recommended Uniform Screening Panel (RUSP). As an entity that advises the Secretary of Health and Human Services (Secretary) based on evidence-based information, ACHDNC periodically considers and evaluates its processes. During the November 2023 meeting, ACHDNC hosted listening sessions to learn more from stakeholders regarding their views on the process used by ACHDNC for nomination and evidence-based review of conditions. In support of this work, HRSA is seeking public input on a series of questions that will help inform the nomination and review processes. DATES: Comments on this FRN should be received no later than April 4, 2024. ADDRESSES: Responses must be submitted electronically as email attachments to CDR Leticia Manning, MPH, ACHDNC's Designated Federal Officer, at: [email protected]. FOR FURTHER INFORMATION CONTACT: CDR Leticia Manning, MPH, Designated Federal Officer, Maternal and Child Health Bureau, HRSA, 5600 Fishers Lane, Rockville, Maryland 20857; 301-443-8335; or [email protected]. A copy of the ACHDNC charter may be obtained by accessing the ACHDNC website at: https://www.hrsa.gov/advisory-committees/heritable-disorders. SUPPLEMENTARY INFORMATION: ACHDNC was established in 2003 and provides advice and recommendations to the Secretary on the development of newborn screening activities, technologies, policies, guidelines, and programs for effectively reducing morbidity and mortality in newborns and children having, or at risk for, heritable disorders. ACHDNC reviews and reports regularly on newborn and childhood screening practices, recommends improvements in the national newborn and childhood screening programs, and fulfills requirements stated in the authorizing legislation. In addition, ACHDNC's recommendations regarding inclusion of additional conditions for screening on the RUSP, following adoption by the Secretary, are evidence-informed preventive health services provided for in comprehensive guidelines supported by HRSA pursuant to section 2713 of the Public Health Service Act (42 U.S.C. 300gg-13), for which certain health insurance plans and issuers are required to provide coverage without cost-sharing. The ACHDNC meets four times each calendar year or at the discretion of the Designated Federal Officer in consultation with the Chair. Responses HRSA is seeking responses on the following questions. Responses to all questions are voluntary, and a response to each question is not required. Nomination Process: The current nomination process can be found here: https://www.hrsa.gov/advisory-committees/heritable-disorders/condition-nomination. The Committee has already received feedback from newborn screening stakeholders on the current nomination process, and based on this feedback, the Committee is requesting that HRSA publish this notice to obtain additional public feedback on the proposed revisions to the questions addressed within the nomination package. Please provide feedback in response to the questions on the proposed elements below (i.e., the condition, newborn screening, and benefits and harms of newborn screening), including: (1) Whether these questions add clarity to what is required for a condition nomination package? (2) Whether appropriate language is used to describe the required information for each section? (3) Whether this question-based format makes clearer the requirements for a nomination? If not, please propose edits and/or changes to what is provided. Please cite any available information that you may have to support your responses. Section I: The Condition (1) What is the specific condition to be screened for (``target condition'') and how is it defined? (2) How is the condition diagnosed as part of usual clinical care? Why is the current clinical diagnostic approach inadequate? (3) What is the reported birth prevalence of the condition in the United States (or comparable newborn population)? Is the condition more common in certain populations? (4) Describe the severity of the condition when detected as part of usual clinical care. Section II: Newborn Screening (1) What testing approach(es) are you suggesting for newborn screening? Please be specific regarding the approach to screening (e.g., dried-blood spot, point-of-care screening, what specimen or test). Is there one or more tiers of testing that should occur before a diagnostic referral to a clinical specialist? (2) How is the condition diagnosed after an at-risk child is identified through newborn screening? (i.e., How does a clinical specialist confirm that an infant has the condition after referral from the newborn screening program?) (3) What other conditions could be identified through newborn screening for the target condition as nominated? This includes phenotypes of the target condition that are not being nominated for newborn screening (e.g., late-onset, mild variants). Will screening for the target condition identify carriers? (4) What examples are there of screening and diagnosis for the condition at a prospective population level (e.g., through state newborn screening (NBS) program or pilot studies)? Has at least one case of the condition been identified, diagnosed, and treated through a prospective population-based approach? (5) Based on at least one example of a prospective population level study from question #4, please describe the epidemiologic elements a-e below. (Include a peer-reviewed study, if available.): (a) The birth prevalence of the target condition. (b) The birth prevalence of the other conditions that could be identified by screening. (c) The percentage of newborns with the target condition who had a positive screen (sensitivity of NBS test). (d) The percentage of newborns with one of the other conditions who were identified through newborn screening with the target condition. (e) The percentage of newborns without the target condition who had a negative screen (specificity of NBS test). Section III: Benefits and Harms of Newborn Screening (1) What is the expected benefit to infants and/or families for detection of the condition through newborn screening compared to clinical care identification? (2) What is the expected harm to infants and/or families for detection of the condition through newborn screening compared to clinical care identification? (3) Are there other benefits or harms that may result from implementing a state newborn screening program? (e.g., false positive or negative results, infants identified with other conditions, or opportunity costs to a state public health system) (4) What treatment and management protocols are available for newborns identified with the condition through newborn screening? [[Page 15878]] (5) What plan for longitudinal follow-up of newborns identified through newborn screening is available? For example, will there be a patient registry available for use by clinical providers or by individuals/families? For how many years would infants with the condition be followed? Evidence-based Review Process: The current criteria for ACHDNC to recommend inclusion of a condition on the RUSP to the Secretary is based primarily on peer-reviewed evidence regarding the certainty that benefits of universal screening outweigh harms (``net benefit''). These criteria have been largely applied to focus on the benefits and harms to the individual child, with much less consideration of benefits and harms to the family, states, or to the public health system. Financial and opportunity costs have received less attention by ACHDNC, in part because of the lack of published evidence regarding such topics. Below is an example of what published evidence should be considered by the Committee when conducting a condition evidence review. The Committee requests feedback regarding the example below. When weighing certainty and net benefit of screening for a condition, the Committee should consider the full range of relevant, published, peer-reviewed evidence. Although such evidence in relation to benefits and harms to the individual child remain paramount, the Committee should also consider benefits and harms to the family and to society at large, including disproportionate impacts or disparities related to specific conditions or screening. For example, the Committee could consider evidence demonstrating benefits for the family regarding future planning (e.g., finances, geographic proximity to services, home design, etc.), earlier access to early intervention programs, or opportunity costs to the public health system. Ideally, potential harms and benefits should be supported by evidence directly relevant to the condition under review. When such evidence is lacking, Committee members could consider peer-reviewed evidence from other disorders to the extent that such evidence is considered potentially relevant to the condition under consideration. Special Note to Commenters The information obtained through this request for information (RFI) may help inform ACHDNC processes. Per the ACHDNC Charter, the Committee has the responsibility to decide the processes for nomination, evidence review, and making recommendations regarding the RUSP. How Committee members ultimately vote on recommending a condition for inclusion on the RUSP will continue to reflect their judgment on the certainty of net benefit to the entire population of infants born in the United States. This RFI is issued solely for information and planning purposes; it does not constitute a Request for Proposal, applications, proposal abstracts, or quotations. This RFI does not commit the U.S. government to contract for any supplies or services or make a grant or cooperative agreement award. Further, HRSA is not seeking proposals through this RFI and will not accept unsolicited proposals. HRSA will not respond to questions about the policy issues raised in this RFI. Responders are advised that the U.S. government will not pay for any information or administrative costs incurred in response to this RFI; all costs associated with responding to this RFI will be solely at the interested party's expense. Authority: ACHDNC is authorized by section 1111(g) of the Public Health Service Act, 42 U.S.C. 300b-10(g), and the Federal Advisory Committee Act, 5 U.S.C. chapter 10. Maria G. Button, Director, Executive Secretariat. [FR Doc. 2024-04618 Filed 3-4-24; 8:45 am] BILLING CODE 4165-15-P